• It protects the secretory proteins from the protease enzymes which are present in the cytoplasm. (microbenotes.com)
  • It is the process of the addition of sugar in secretory proteins. (microbenotes.com)
  • The PI3K/Akt/mTOR signaling pathway is a key regulator of diverse physiological functions such as proliferation, global protein, and lipid synthesis as well as many metabolic pathways interacting to increase secretory capabilities. (go.jp)
  • O-linked found in mucous fluids, but can also be present in membrane and secretory proteins, 3 or more sugars linked by N-acetylglalactosamine (GalNAc)--connected to serine, theronine. (freezingblue.com)
  • Program access grant to the STFC Harwell Laser Facility 'The Plant Cell Initiative: Protein interactions in the higher plant secretory pathway' 2017-2021 (approximate value of £200K). (brookes.ac.uk)
  • In the case of cytotoxic T lymphocytes and NK cells, the presence of serglycin is central for the retention of cytotoxic effector proteins and the formation of dense-core secretory granules. (edu.au)
  • After induction glycoconjugates generally appeared later than unglycosylated carrier protein, suggesting that glycosylation was the rate-limiting step for synthesis of conjugate vaccines in E. coli . (biomedcentral.com)
  • Glycoconjugate synthesis, in particular expression of oligosaccharyltransferase PglB, strongly inhibited growth of E. coli cells after induction, making it necessary to separate biomass growth and recombinant protein expression phases. (biomedcentral.com)
  • This low concentration explains how the inefficiency of previous CFE systems is derived from limitations of membrane protein synthesis, namely the fact that additional vesicle supplementation needed to match protein levels. (scienceboard.net)
  • RER is present in the cells which are involved in the active transport of protein as well as in the synthesis of enzymes. (microbenotes.com)
  • It involves the synthesis, folding, and modification of proteins. (microbenotes.com)
  • RER usually is present as cisternae, They are found in cells like the pancreas, brain, and notochord where the synthesis usually takes place. (microbenotes.com)
  • It is the site for the synthesis of protein . (microbenotes.com)
  • Some proteins are essential in the synthesis of cellular membranes. (microbenotes.com)
  • basic entering only fungi in characterised RHOA receptor, which targets validated to respectively be muscle of synthesis complex molecules( Kong et al. (familie-vos.de)
  • It shares mechanistic similarities based on the use of polyisoprenol lipid carriers with other glycosylation pathways involved in the synthesis of bacterial cell wall components (e.g. peptidoglycan and teichoic acids). (biomedcentral.com)
  • Though the VNTR resides in the 3'UTR and therefore does not affect the protein's amino acid sequence, regulatory factors such as mRNA stability and nuclear transport, and protein synthesis are potentially regulated by such variations [ 11 - 14 ]. (biomedcentral.com)
  • These vesicles are carriers of active or non-autonomous function biomolecules, such as proteins, lipids, DNA, mRNA and non-coding regulatory RNA. (spandidos-publications.com)
  • We found that the FERM domain in the tail region, which is known to bind to lipids as well as other proteins, is essential for both nuclear and chloroplast positioning, whereas the proximal MyTH4 domain plays a supporting role in chloroplast transport. (go.jp)
  • MARV assembles and buds from the host cell plasma where MARV matrix protein (mVP40) dimers associate with anionic lipids at the plasma membrane inner leaflet and undergo a dynamic and extensive self-oligomerization into the structural matrix layer. (uci.edu)
  • In conjunction with the Golgi complex, RER helps in the formation of primary lysosomes. (microbenotes.com)
  • The RER provides enzyme precursors for the formation of lysosomes with the help of the Golgi complex. (microbenotes.com)
  • Additional Man is often trimmed in the Golgi followed by the addition of 2-4 branches composed of GlcNAc, Gal and a terminal sialic acid (Sia) to form complex-type sugar chains. (gr.jp)
  • During this process, oligosaccharides get transported in the proteins. (microbenotes.com)
  • oligosaccharides have Precursor section signals that are the inner complex of a Optional end of mitochondrial inactive libraries shaping attachment mechanisms, disease serves, direct proteins, 19th sites and clinical roles( Hagenbuch & Meier 2004). (familie-vos.de)
  • His interest in Congenital Disorders of Glycosylation began when he noticed that oligosaccharides from fibroblasts of a CDG patient with an unknown defect had sugar chains similar to Dictyostelium glycosylation mutants. (gr.jp)
  • PMM2-CDG, the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides, is divided into three clinical stages: infantile multisystem, late-infantile and childhood ataxia-intellectual disability, and adult stable disability. (nih.gov)
  • Perilipin 5 (PLIN5) is a lipid-droplet-associated protein that coordinates intracellular lipolysis in highly oxidative tissues and is thought to regulate lipid metabolism in response to phosphorylation by protein kinase A (PKA). (uci.edu)
  • FLIM-FRET analysis of protein-protein interactions showed that PLIN5 S155 phosphorylation regulates PLIN5 interaction with adipose triglyceride lipase at the lipid droplet, but not with α-β hydrolase domain-containing 5. (uci.edu)
  • We have found that phosphorylation of Rab10 blocks primary cilia formation in culture and in certain brain regions and we would like to understand how this leads to Parkinson's disease. (stanford.edu)
  • Post-translational modifications of IGFBP, including glycosylation, phosphorylation and proteolysis, have been shown to modify the affinities of the binding proteins to IGF. (bio-techne.com)
  • The functions of the sugar chains are as varied as their complex structures, and include cell-cell communication, intracellular signaling, protein folding, targeting of proteins within cells and control of hormone levels, among many others. (gr.jp)
  • Glycosylation is an important process as it defines intracellular interactions - how cells 'talk to' and 'see' each other - but glycomics is still an emerging field. (ddw-online.com)
  • The transient receptor potential melastatin 4 (TRPM4) protein is an intracellular Ca 2+ -activated non-selective cation channel, which is impermeable to Ca 2+ . (frontiersin.org)
  • Conjugate vaccines in which polysaccharide antigens are covalently linked to carrier proteins belong to the most effective and safest vaccines against bacterial pathogens. (biomedcentral.com)
  • Sialic acid is a generic term for the N- or O-substituted derivatives of neuraminic acid, a monosaccharide with a nine-carbon backbone and are found widely distributed in animal tissues and to a lesser extent in some other organisms, ranging from fungi,plants,yeasts and bacteria, mostly in glycoproteins and gangliosides. (biochemistryconferences.com)
  • More than half of all eukaryotic proteins are glycoproteins, and 90 % of those are N- glycosylated [ 33 ]. (biomedcentral.com)
  • Many glycome studies are focusing on the relationship between N-linked glycosylation of plasma glycoproteins and different diseases (4). (ddw-online.com)
  • In vivo enzymatic coupling using the general glycosylation pathway of Campylobacter jejuni in recombinant Escherichia coli has been suggested as a simpler method for producing conjugate vaccines. (biomedcentral.com)
  • Here, a phylogenomic analysis was carried out to examine the validity of rival hypotheses suggesting alternative archaeal or bacterial origins to the eukaryotic N- glycosylation pathway. (biomedcentral.com)
  • The origin of the eukaryotic N- glycosylation pathway is not unique and less straightforward than previously thought: some basic components likely have proteoarchaeal origins, but the pathway was extensively developed before the eukaryotic diversification through multiple gene duplications, protein co-options, neofunctionalizations and even possible horizontal gene transfers from bacteria. (biomedcentral.com)
  • Following the success of comparative analyses to trace back particular machineries to LECA [ 25 - 32 ], the origin and evolution of the eukaryotic N- glycosylation pathway will be studied here. (biomedcentral.com)
  • We have previously shown that hemocyanins are internalized by APCs through receptor-mediated endocytosis with proteins that contain C-type lectin domains, such as mannose receptor (MR). However, the contribution of other innate immune receptors to the proinflammatory signaling pathway triggered by hemocyanins is unknown. (exeter.ac.uk)
  • Over the last 15 years I have developed a research pathway in auxin biosynthesis going back to my degree and PhD work at the Technical University of Munich where I studied the nitrilase pathway in maize auxin biosynthesis and maize tryptophan synthase complex. (brookes.ac.uk)
  • Recognition of infected/transformed cells and their elimination depends strongly on the capacity of cytotoxic lymphocytes to release cytotoxic effector proteins Perforin and granzyme B. This process is known as the Granular death pathway, which has an essential role in Cytotoxic lymphocyte function and immune homeostasis since its deficiency is known to lead to pathologies related to immune misbalance, which are usually deadly to the host. (edu.au)
  • He worked on the lysosomal enzymes of the slime mold Dictyostelium , and found their oligosaccharide structures resembled those on human lysosomal enzymes. (gr.jp)
  • In Chapter 3 of this thesis, I describe the TRACEBACK study - a novel approach to OC prevention through finding previously unrecognised carriers of pathogenic germline variants (PVs) among women with high grade non-mucinous ovarian cancer (HGNMOC) who had missed the opportunity for genetic testing. (edu.au)
  • Recent evidence indicates that altered degradation rate of mutant proteins represents a pathogenic mechanism underlying genetic diseases. (frontiersin.org)
  • Its large size and numerous epitopes generate a substantial immune response, and abundance of lysine residues for coupling haptens allows a high hapten:carrier protein ratio, increasing the likelihood of generating hapten-specific antibodies. (wikipedia.org)
  • It is composed of 3 glucose (Glc), 9 mannose (Man) and 2 N -acetylglucosamine (GlcNAc) residues, Glc 3 Man 9 GlcNAc 2 , and then transferred en bloc from the lipid carrier to proteins. (gr.jp)
  • Expression of mouse zonadhesin mRNA is evident only within the testis, and the protein is found exclusively on the apical region of the sperm head. (embl.de)
  • It is caused by a point mutation (G→T) at nucleotide position 559 of the gene, bovine solute carrier family 35 member 3 (SLC35A3). (researchgate.net)
  • bovine solute carrier family 35 membe r 3 (SLC35A3). (researchgate.net)
  • Exosomal markers include microRNAs like miR-21 and miR-141, plus various proteins that belong in functional groups such as tetraspanins (CD9, CD63 and CD81), heat shock proteins (Hsp70, Hsp73 and Hsp90) and membrane transporters (GTPases) ( 4 ). (spandidos-publications.com)
  • In the blood, the primary buffer is sodium bicarbonate, or baking soda, along with various proteins and hemoglobin. (ironmanmagazine.com)
  • Glycans are information-rich, universally abundant biomolecules found throughout all organs and tissues in the human body (3). (ddw-online.com)
  • A pig sperm protein that binds to the extracellular matrix of the egg in a species-specific manner was recently identified and named zonadhesin (Hardy, D. M., and Garbers, D. L. (1995) J. Biol. (embl.de)
  • All cells are surrounded by a coating of glycans known as the glycocalyx, and extracellular matrix (ECM) proteins outside of the cell are often glycosylated. (ddw-online.com)
  • Haptens are substances with a low molecular weight such as peptides, small proteins and drug molecules that are generally not immunogenic and require the aid of a carrier protein to stimulate a response from the immune system in the form of antibody production. (wikipedia.org)
  • Aside from being a carrier for molecules, albumin is also thought to be an anti-oxidant protein by scavenging reactive oxygen species, protecting bound substances from oxidant injury, and binding free copper, which acts as an oxidant ( Merlot et al 2014 ). (eclinpath.com)
  • Unlike DNA and protein, which are linear molecules, the sugar chains are branched. (gr.jp)
  • A step towards rapid radiolabeling of complex biological molecules for PET imaging. (cea.fr)
  • My additional independent research on ER localisation and splicing in auxin biosynthesis showed for the first time ER-localisation for an auxin biosynthetic protein. (brookes.ac.uk)
  • In consequence, protein turnover of WT-TRPM4 and TRPM4 variants overexpressed in HEK293 cells was analyzed using cycloheximide, an inhibitor of protein biosynthesis. (frontiersin.org)
  • This project will focus on the study of the serglycin gene, the produced protein, and its modification in the hopes to better understand the motifs and interaction allows the retention and function of cytotoxic effector proteins in cytotoxic T cells. (edu.au)
  • As proteo refers to protein, while glycan represents sugar or a group of sugars, so proteoglycan is a long polysaccharide chain covalently attached to a protein. (biochemistryconferences.com)
  • Along with the cytotoxic effector proteins, a heavily glycosylated proteoglycan is found in the secreted granule content of Cytotoxic lymphocytes, which upon analysis, led to the discovery of a small protein serglycin, named after the serine-glycine repetitions found in the centre of it protein sequence. (edu.au)
  • For a variety of organisms, close to 30% of the genome is used to encode membrane proteins," said co-author Neha Kamat, PhD, assistant professor of biomedical engineering at McCormick. (scienceboard.net)
  • internal establishing and regulator of the domain continuous cancer intermediate( MLRC) not of required RHOA acts reviewed for neutral triphosphorylation protein in major hairpin interactions( Murray et al. (familie-vos.de)
  • Mammalian bone morphogenetic protein-binding (BMP-binding) endothelial regulator protein. (embl.de)
  • The human dopamine transporter (hDAT), one member of a family of Na + /Cl - dependent transmembrane transport proteins, serves as a critical regulator of dopaminergic neurotransmission throughout much of the brain. (biomedcentral.com)
  • The oligosaccharide is then transferred to the nascent polypeptide chain by the oligosaccharyl transferase complex located in the ER membrane. (gr.jp)
  • In addition, because KLH is derived from the limpet, a gastropod, it is phylogenetically distant from mammalian proteins, thus reducing false positives in immunologically-based research techniques in mammalian model organisms. (wikipedia.org)
  • Mammalian von Willebrand factor (VWF), a multifunctional protein involved in maintaining homeostasis. (embl.de)
  • Figure 1: Comparison of analyzers with respect to their ease of implementation in microbial fermentations and mammalian cell culture unit operations for various quality attributes: (a) misincorporation, (b) nutrients, (c) glycosylation, and (d) cell growth. (biopharminternational.com)
  • As a result of this program, unusu- be the accumulation of an abnormal isoform (PrPres) of al TSE isolates were rapidly identified in sheep and goats the normal cellular prion protein (PrPc). (cdc.gov)
  • PRNP ( PR io N P rotein) is the human gene encoding for the major prion protein PrP (for pr ion p rotein), also known as CD230 ( cluster of differentiation 230). (wikidoc.org)
  • Thus, endomembrane-modifying proteins within the endomembrane system will have an influence on the final grain quality/yield and recombinant protein production. (nature.com)
  • The comparison of several polyisoprenol-based glycosylation pathways from the three domains of life shows that most of the implicated proteins belong to a limited number of superfamilies. (biomedcentral.com)
  • It encodes a large nuclear protein that is a component of DNA repair pathways. (lookformedical.com)
  • The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (lookformedical.com)
  • It encodes a large, nuclear protein that is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (lookformedical.com)
  • The new criteria for diagnosing prodromal AD assume that, to increase the predictive value of the MCI, in addition to a defect of delayed recall there must also be the presence of abnormal biomarkers, investigating structural and molecular neuroimaging and cerebrospinal fluid (CSF) analysis of amyloid-β or tau proteins. (iospress.com)
  • Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. (lookformedical.com)
  • Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm. (lookformedical.com)
  • After process membrane and during S mitosis, FANCD2 dissociates to viral such others that cycle with proteins taken in molecular type trans-membrane, neutral as BRCA1 and RAD51. (erik-mill.de)
  • The long term goal of our research is to elucidate the molecular mechanisms by which proteins are targeted to specific and distinct compartments. (stanford.edu)
  • DEC-205 (CD205), a member of the macrophage mannose receptor protein family, is the prototypic endocytic receptor of dendritic cells, whose ligands include phosphorothioated cytosine-guanosine (CpG) oligonucleotides, a motif often seen in bacterial or viral DNA. (uci.edu)
  • Here we describe the 3.2 Å cryo-EM structure of human DEC-205, thereby illuminating the structure of the mannose receptor protein family. (uci.edu)
  • POLK and POLZ have in the receptor of proteins reused multiple to such anions by POLK. (erik-mill.de)
  • 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al. (nih.gov)
  • This oligosaccharide is always transferred to the NH2 group on the side chain of an asparagines residue of the protein. (microbenotes.com)
  • Based on proteome annotation and a homology search, 94 proteins associated with the endomembrane system were identified that exhibited significant changes in abundance during grain development. (nature.com)
  • I am committed to interdisciplinary research, and an example of the successes gained from this approach is the project with Prof A Nabok (Engineering Sheffield Hallam University) using total internal reflection ellipsometry to quantify protein-membrane interactions on native plant membranes and human cell lines. (brookes.ac.uk)
  • CFE reactions based on the use of Escherichia coli can quickly synthesize grams of protein per liter in batch reactions, are scalable from the nanoliter to 100-L scale, and can be freeze-dried for months of shelf stability. (scienceboard.net)
  • Two different periplasmic carrier proteins, AcrA from C. jejuni and a toxoid form of Pseudomonas aeruginosa exotoxin were glycosylated with Shigella O antigens in E. coli . (biomedcentral.com)
  • Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. (lookformedical.com)
  • The importance of low frequency and rare variation in complex disease genetics is difficult to estimate in patient populations. (frontiersin.org)
  • In addition we also find that there is a significant enrichment of genes annotated for disease-causing mutations in the OMIM database, suggesting that in complex diseases such as SLE, such mutations may be involved in subtle or combined phenotypes or could accelerate specific organ abnormalities found in the disease. (frontiersin.org)
  • Whole-exome sequencing is a cost-effective alternative, however one of its obvious drawback is the absence of variants in non-coding regions, which may be especially relevant in the context of complex disease genetics. (frontiersin.org)
  • This disease fills the page of the local bypassing licensing healing with DNA to the mediated complex, mediated by the endocytosed oxygen peptide. (familie-vos.de)
  • This is changing because we now know that altering glycosylation causes human disease. (gr.jp)
  • Glycosylation accounts for the majority of post-translational modifications (PTMs) of proteins, and changes in glycosylation are known to play a key role in disease state. (ddw-online.com)
  • Although there are more than 60 commonly-used cancer markers available (1), new discoveries are slow to progress through validation and reach clinical use, and the challenge continues to find those with sufficient sensitivity (to detect disease correctly) and specificity (to reject healthy individuals correctly). (ddw-online.com)
  • In a disease state, changes in glycosylation can be crucial, so research on how glycans change on the surface of cells in response to different disease processes is integral to the discovery and development of new treatments. (ddw-online.com)
  • The protein can exist in multiple isoforms , the normal PrP C , and as Protease resistant PrP Res like the disease-causing PrP Sc(scrapie) and an isoform located in mitochondria . (wikidoc.org)
  • We mentioned before that Alzheimer's disease and Vitamin K studies show have a common link - Vitamin K levels are lower in carriers of the APOE4 gene, the gene that is a risk factor in Alzheimer's. (fortyfiveplus.club)
  • We also study the NPC1 protein that is essential for cholesterol transport in humans and can lead to Niemann Pick C disease when mutated. (stanford.edu)
  • Albumin makes a large contribution to plasma colloid osmotic pressure due to its small size and abundance (35-50% of total plasma proteins by weight). (eclinpath.com)
  • notably, integration of proteomics data with in situ subcellular microscopic analyses showed a high abundance of cytoskeleton proteins associated with acidified PBs at the early development stages. (nature.com)
  • Inherited or acquired variations in the concentration and/or affinity of these proteins may produce substantial changes in serum total TH levels measured by commercially available assays. (medscape.com)
  • More specifically, low TBG is suggested because this protein carries the majority of the serum TH. (medscape.com)
  • As the fructose( 46) parasites, for heparan mice or complex responses. (familie-vos.de)
  • The superfamily of insulin-like growth factor (IGF) binding proteins include the six high-affinity IGF binding proteins (IGFBP) and at least four additional low-affinity binding proteins referred to as IGFBP related proteins (IGFBP-rP). (bio-techne.com)
  • Here we report a dual strategy for assessing genetic variation overlooked by those prior efforts: low-frequency protein-coding variants genotyped by large-scale exome-focussed arrays and high-density X-chromosome single-nucleotide polymorphism (SNP) genotyping and imputation. (nature.com)
  • Genome-wide association studies have been designed primarily to capture common variation and so far some 10,000 common genetic variants have been robustly associated with a wide range of complex diseases ( 1 ). (frontiersin.org)
  • There has been much debate as to the role of rare genetic variation on complex traits ( 2 - 4 ) and how rare variant studies complement GWASs ( 5 ). (frontiersin.org)
  • Gene sequences from normal and carrier animals were compared using the software, codon code Aligner 4.0.4. (researchgate.net)
  • The three proteins share between 21 and 29% identity (37C50% similarity) with LCP proteins from (MsrR, SA0908, and SA2103), (CpsA2), and (TagT, TagU, and TagV) (Fig. 2maps to an AG biosynthetic gene cluster adjacent to ((genus and other AG-producing Actinobacteria, including species, and is a pseudogene in LCP protein candidates. (sicollaborative.org)
  • By learning how to use membrane proteins effectively, we can really advance cell-free systems. (scienceboard.net)
  • They found that upstream extract processing (cell lysis) can be used to tune vesicle concentration. (scienceboard.net)
  • It is involved in the response of the cell to unfolded protein. (microbenotes.com)
  • Some proteins are to be secreted from the cell or they need to be exported. (microbenotes.com)
  • Essentially all secreted and cell surface proteins are glycosylated. (gr.jp)
  • Species diversity in the structure of zonadhesin, a sperm-specific membrane protein containing multiple cell adhesion molecule-like domains. (embl.de)
  • It is thought that the GlcNAc of the linker unit of the mature AG next forms a 1-mutant deficient in the arabinan domain of AG was found to assemble a simplified cell wall consisting of the galactan chain of AG attached to PG suggests, however, that neither the arabinosylation of AG nor its mycolylation are prerequisites for its attachment to PG (14, 15). (sicollaborative.org)
  • Wall teichoic acids (WTA), in place of AG, are more classically found in covalent attachment to PG in the cell walls of many Gram-positive bacteria (16). (sicollaborative.org)
  • Our results highlight the participation of two of these proteins in the phosphotransferase reaction leading to the ligation of AG and PG, a crucial step in the assembly of the entire complex cell wall of H37Rv yielded three candidates: Rv0822c, Rv3267 (herein renamed CpsA1), and Rv3484 (herein renamed CpsA2). (sicollaborative.org)
  • The glycosylation on a cell's surface is recognised by the immune system and facilitates immune cell binding, particularly in cancer. (ddw-online.com)
  • In normal cells the BRCA1 protein is localized in the nucleus, whereas in the majority of breast cancer cell lines and in malignant pleural effusions from breast cancer patients, it is localized mainly in the cytoplasm. (lookformedical.com)
  • Specifically, they found that extracts centrifuged at a speed of 12,000 g (S12) produced a significantly higher concentration of vesicles compared to those centrifuged at 30,000 g. (scienceboard.net)
  • Exosomes are one of the most researched classes of extracellular vesicles because they are carriers of targeted protein and DNA/RNA loads. (spandidos-publications.com)
  • Similarly, it is found that the lumen of the RER is involved in the protection of the rest of the chain at the NH 2 end. (microbenotes.com)
  • In the absence of oxygen, the bound copper is found as Cu1+ and hemocyanin is colorless. (wikipedia.org)
  • first-hand exposed, the FGFR linking download The Post Utopian Imagination: is found by distinct Third absorption tissues. (familie-vos.de)
  • Indeed, the diabetic patients heart mitochondria are typically found to have deteriorated in number and structure, exhibiting increased reactive oxygen species (ROS) emission, and compromised mitochondrial respiratory capacity in the mitochondria [ 9 ] . (encyclopedia.pub)
  • State-of-the art production technologies for conjugate vaccines are complex, multi-step processes (Figure 1 ). (biomedcentral.com)
  • In the current study, the researchers found that increasing vesicle concentration could be useful in making components for protein therapeutics such as conjugate vaccines, which work by attaching a sugar unit -- which is unique to a pathogen -- to a carrier protein. (scienceboard.net)
  • The findings implicate new mechanisms that regulate puberty timing, but collectively these novel variants explained only ∼ 0.5% of the variance, indicating that these often overlooked sources of variation that do not substantially explain the 'missing heritability' of this complex trait. (nature.com)
  • Here we test two overlooked sources of variation in 192,974 European ancestry women: low-frequency protein-coding variants and X-chromosome variants. (nature.com)
  • Collectively, these novel variants explain ∼ 0.5% variance, indicating that these overlooked sources of variation do not substantially explain the 'missing heritability' of this complex trait. (nature.com)
  • In particular, like most GWAS for other complex traits, previous GWAS for age at menarche provided poor coverage for low-frequency variants and omitted sex chromosome data. (nature.com)
  • We identify several new associations between rare protein-coding and X-linked variants with age at menarche in women of European ancestry. (nature.com)
  • It would be very unexpected to find rare variants that could have substantial effect sizes and therefore high penetrance contributing to complex traits, being more likely to have mutations with modest effects. (frontiersin.org)
  • In the present study, we identify and characterize four novel TRPM4 variants found in patients with CHB or ventricular fibrillation. (frontiersin.org)
  • In conclusion, decreased or increased protein expression of several TRPM4 variants linked to cardiac conduction disorders or ventricular arrhythmias were found to be caused by altered TRPM4 half-life compared to the WT form. (frontiersin.org)
  • Here I pursued my scientific interests in subcellular protein localisation, bioinformatics, and mathematical modelling. (brookes.ac.uk)
  • These reports led us to investigate the possible involvement and therapeutic potential of the three LCP-like proteins encoded by the genome in the ligation of AG to PG. (sicollaborative.org)
  • However, it is surprising that no phenotypic effects were observed in the carrier bull, necessitating further studies to fully elucidate the effects of these novel homozygous mutations. (researchgate.net)
  • The human protein structure consists of a globular domain with three α-helices and a two-strand antiparallel β-sheet , an NH 2 -terminal tail, and a short COOH -terminal tail. (wikidoc.org)
  • Uptake and degradation is facilitated if the protein is structurally modified. (eclinpath.com)
  • each organelle has functionally distinct zones, and zones in different organelles closely interact each other in order to perform complex cellular functions. (go.jp)
  • Mollusk hemocyanins have biomedical uses as carriers/adjuvants and nonspecific immunostimulants with beneficial clinical outcomes by triggering the production of proinflammatory cytokines in antigen-presenting cells (APCs) and driving immune responses toward type 1 T helper (Th1) polarization. (exeter.ac.uk)
  • Together our data identified promising targets to be genetically engineered to modulate seed storage protein accumulation that have a growing role in health and nutritional issues. (nature.com)
  • IGFBPs modulate the biological activities of IGF proteins. (bio-techne.com)
  • Keyhole limpet hemocyanin (KLH) is used extensively as a carrier protein in the production of antibodies for research, biotechnology and therapeutic applications. (wikipedia.org)
  • Competition binding assays showed no statistically significant DAT1 genotype effects on the DAT affinity for methylphenidate, a finding consistent with the positional location of the VNTR. (biomedcentral.com)